Interventions and Outcomes for Inherited Retinal Dystrophy: A Qualitative Examination

EMPAG June 2012

Dr Ryan Combs

Fight for Sight Grant: Professor G Black and Ms G Hall

BACKGROUND

• Heterogeneous, including:

•Retinitis Pigmentosa (RP), Leber Congenital Amaurosis, Chroideremia

• Incidence 1 in 3,000

• Autosomal dominant, recessive or x-linked inheritance

• Variable age of onset and rate of visual deterioration

• Next generation sequencing means greater gene identification

Inherited Retinal Dystrophy

BACKGROUND

Progressive, severe vision loss

Huge impact on day-to-day life.

Living with risk in the family

Currently no current treatments

Gene therapy and stem cell replacement offer hope

Key issues for patients

BACKGROUND Why is a project on Retinal Dystrophy services important?

• A review of clinical services for inherited eye diseases identified variation in service provision across the UK (Moore and Burton 2008).

VARIATION IN PRACTICE

• Manchester provides national service for genetic testing for inherited retinal dystrophies. Our data show inequality of access.

UNEQUAL ACCESS

AIMS: THE REGARD PROGRAMME

5 year Programme Grant funded by Fight for Sight

Multi-centre: Manchester, Oxford, London

Multidisciplinary approach: Health services researchers economists, clinicians

Follows MRC Framework for Complex Interventions

Phase 1 “Modelling”

Phase 2 “Evaluating”

Regard Care Model

Aim: develop and evaluate an evidence-based patient-led care model for inherited retinal dystrophy

METHODOLOGY

28 in-depth semi-structured telephone interviews Transcribed verbatim Analysed using thematic qualitative analysis Sample: Mutation positive families across three centres Range of genetic patterns and severity Affected / unaffected

Patients, n=20 (9 affected, 11 unaffected)

Professionals, n=8 (4 ophthalmologists, 2 geneticists, 1 genetic counsellor, 1 social worker)

RESULTS

Patient Need

Medical

Support

Practical Support

Psycho-social

Support

Patient Experiences Three categories of need have been identified in the analysis.

RESULTS: MEDICAL NEEDS

• P27: “It is nice to have a label, it really is. I mean, the worst bit of the diagnosis is when you are in limbo and you don’t really know what you’ve got and how it’s going to affect you.”

1. Diagnosis

• P19: “When people find out that they’ve got RP, I think they do need information, proper information about it, and for somebody to be able to answer the questions.”

2. Information about disease/prognosis

• P10: “All my sisters wanted to be tested so obviously for their future families.”

3. Information about inheritance and risks

• P7: “Personally I think if we’re going to give academics, researchers a chance of finding cures, we want to be involved”.

4. Information about research and option to participate

RESULTS: PSYCHOSOCIAL NEEDS

• P17: “The nurse that we saw was very supportive. She explained everything and told us what the test was going to be like. She raised quite a few issues... I think this is why [my niece] decided not to actually have hers done that day.”

1. Information about options and their consequences

• P24: “[The genetic counsellor] got me to talk about it and it was very emotional… I think ultimately it was a good thing and I think it helps you explore your own feelings and it helps you through that process, that grieving process”

2. Adjustment and Coping

• P12: “In a way it would be quite nice to be kept in a loop of it, but then that also means that I need to groom my brother, which I’m a bit loathe to do because it’s obviously a subject that he doesn't feel that he needs to completely discuss with me.”

3. Communication

RESULTS: PRACTICAL NEEDS

• P19: “It was a nightmare trying to get help [...] All we needed was somebody to point us in the direction of where to go for retraining, what entitlement he’d got in benefits.”

1. Information about benefits

• P10: “I struggle to do most basic things” 2. Adaptations

• P13: “I had a [driving] test booked and she just said to me ‘oh you’ll be okay for about another two years and you’ll have to stop.’ And I think it was from then on that things sort of really had a bit of an impact. I gave up driving there and then.”

3. Mobility

RESULTS

The data were then analysed through the theoretical framework of Empowerment to determine whether or not this framework encapsulates the desired outcomes of this group.

Behavioural Control

(BC)

Cognitive Control

(CC)

Decisional Control

(DC)

Emotional Regulation

(ER) Hope (H)

Empowerment (McAllister et al 2011)

RESULTS

Medical Outcome

Diagnosis CC

Information about the disease & prognosis

CC

Information about inheritance pattern and risks to self and family

CC, BC

Information about research developments and the option to participate

CC, BC, H

Psychosocial Outcome

Information about options and their consequences

BC, DC, ER

Adjustment and coping

ER, H

Communication CC, ER

Practical Outcome

Information about benefits

Independence

Adaptations

Independence

Mobility

Independence

Key: Behavioural Control: BC, Cognitive Control: CC, Decisional Control: DC, Emotional Regulation: ER, Hope: H

Additional outcome – Independence “The ability to participate fully in social, family, economic, educational and/or public life.”

INTERIM CONCLUSION

Qualitative analysis of interviews with patients demonstrates three complex domains of perceived need

These map on to empowerment outcome measures

Retinal dystrophy patients also have differentiating needs that we have termed ‘independence’

Results validated with patient advisory group

NEXT STEPS: DESIGN AND EVALUATE CARE MODEL

Facilitating understanding (education/comprehension)

Diagnosis and clinical management

Decision support

Emotional and coping support

Communication support

Facilitating independent living

- Empowerment

- Independence

Interventions

Focus Groups

Outcomes

CONCLUSIONS

Comprehensive patient-led approach for designing service

Applicable to all inherited eye disease

Model may be relevant to multidisciplinary care for genetics patients across any specialty.

CONTRIBUTORS

Dr Ryan Combs (1), Georgina Hall (2), Dr Marion McAllister

(3), Professor Katherine Payne (1), Miss Susan Downes (4), Jo

Lowndes (4), Professor Anthony Moore (5), Sophie Devery (5),

Genevieve Wright (5), Dr Simon Ramsden (2), Professor

Graeme Black (1)

1. University of Manchester, Manchester, UK 2. Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK 3. Institute of Medical Genetics, Cardiff University, UK 4. Oxford Eye Hospital, Oxford, UK 5. Moorfields Eye Hospital, London, UK